Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013456 | SCV001174043 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-07 | criteria provided, single submitter | clinical testing | The c.1868-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 16 in the MRE11A gene. This nucleotide position is not well conserved in available vertebrate species, and C is the reference nucleotide in multiple species. Using the BDGP splice site prediction tool, this alteration does not have any significant effect on this splice acceptor site, however the ESEfinder splice site prediction tool predicts a slight weakening in the native splice acceptor site efficiency. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV001788397 | SCV002030225 | uncertain significance | Ataxia-telangiectasia-like disorder 1 | 2021-02-09 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002236100 | SCV002509445 | likely benign | Ataxia-telangiectasia-like disorder | 2023-05-09 | criteria provided, single submitter | clinical testing |